A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116808



Internal ID18909332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172007124..172007174hg38UCSC Ensembl
Outerchr2:172872029..172872079hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955592
SamplesKWS1
Known GenesMETAP1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116808
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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